GynoFiles

Fragile X syndrome is the leading cause of inherited intellectual disability for any individual. The chances you can pass on Fragile X to your baby doesn't change with advancing age, unlike passing on Trisomy 21 or Down's Syndrome, which becomes more common as the age of the pregnant mom increases. Most pregnant women do get screened and or at least ask about Down syndrome, which is NOT inherited, it just happens Pregnant women under the age of 40 have a higher risk to be a Fragile X mutation carrier than a chance to have a child with Down syndrome   Fragile X carrier screening is recommended by the national genetics and the national obstetric guidelines. The ACMG Guidelines for women with fertility or reproductive issues, especially with a family history of ovarian failure, family history of unknown intellectual disability or late-onset intention tremor or cerebellar ataxia of unknown etiology and ACOG recommends it for those with Premature Men...

From the first illustrious sequencing of human DNA to the current ability to give anyone their DNA genome for $1000, has been a story of an amazing technology that cannot yet give us complete answers to what Shakespeare once said, "the fault ....is not what lies in our stars, but in ourselves" . And to find the extent to which our health 'lies in our genes'. To that end there has been a project at Stanford University Medical School to be able to sequence the whole genome in an individual patient to check for genetic diseases when someone is ill. This sort of testing has significant flaws, and a cautionary tale for those trying to use this technology to further their health. A genetic disease currently is defined as "ACMG-reportable" if the American College of Medical Genetic s and Genomics says that the gene sequence, in simplistic terms,  is known to cause inherited disease in the population. The Stanford group has been testing small groups of patients and...

You have unique needs that your gyno can address, and knowing your family history is an important part of having optimal medical care. Although gathering facts from distant family members can be time consuming, and need updating regularly a relatively new tool from the government can help you keep these facts as current as possible. In the past we talked about individualizing care, but the newest buzz word is to "personalize" your care. This may then determine what conditions you are at most risk for, what tests you need, which tests you need to avoid, and what medicines will work better in your case. So if you haven't tried this tool, check it out, Family History is important, and this tool makes it easy to gather and to track. 

Gynos are still struggling to detect early stage ovarian cancer. The best we've come up with so far is to eliminate risk in those that genetically are at the highest risk. Women with BRCA 1 have about a 50% risk by age 50 and those with BRCA 2 have about an 85% lifetime risk of ovarian cancer. Ovarian removal in these women can reduce these risks down to extremely low rates. We now think that there is another genetic variant that helps explain the families of women who have risk but test negative for BRCA 1 and 2. This is the new test called PrOvar . It's very new, it's not widely available, and it's in the development phase.Remember, that pelvic examinations, close attention to how you feel, and in some cases pelvic ultrasounds, and when indicated, 3-D imaging will help identify women who already have disease. Once you have disease, Ova1 testing may be indicated to get proper treatment.

Orange Rose by W. Scifres When you start blaming your parents, we're going to find out, it's gotten a whole lot more complex than "she wouldn't let me wear jeans to school" or "I never got to watch the tv I wanted," it gets down not only our genes, but how those genes layer out! The egg is virtually all genetically derived from mom, then sperm injects a piece of DNA and dad starts to exert more influence. And the persistent influences of mom or dad on us genetically is known as genetic imprinting. This has wide reaching effects on our health, not just his nice smile, or mom's eyes, or the genetic tendency towards breast cancer. And learning which aspects of health are from the maternal or paternal side has become an entire science. We know for instance that placentas are, oddly enough, controlled mostly by chromosomes derived from the dad. And dermoid tumors of the ovaries come only from maternally derived chromosomes. And it's gotten a whole...

Just stand back and be clinical for one moment. Lets say you were picking a sperm donor off a shelf and not just someone to hang with forever after. Just what tests are recommended for those donors? The American Society for Reproductive Medicine actually has recommendations for the donors of banks: they need to be screened for syphilis, Hepatis B, gonorrhea, chlamydia, and HIV. Interestingly they are also recommending screening for cytomegalovirus . Most banks will actually screen much more in depth. The list of tests the donors get for STDs at California Cryobank is more extensive.. In fact they say that less than 1% of their sperm donor applicants get accepted for actual donation. And most banks hold sperm for at least 180 days so that the guys can be retested for diseases that may have been contracted but not yet revealed. Beyond screening for STDs generally guidelines call for men under 50, free from genetic or medical diseases and no history of high risk behaviors like intravenou...

How many baby cells are circulating in your blood stream? Not many. Out of each million, or maybe even 10 million cells in your blood stream, one belongs to the baby when you are pregnant. Sort of a challenge to find the one cell out of ten million that would reveal the inner DNA secretes of a developing baby. Needles in haystacks used to be easier to find than fetal cells in mom’s blood stream. So for the past three decades we have tried to understand the health of the baby by investigating fetal proteins in mom’s blood. Proteins are huge molecular structures, we have no trouble finding proteins with current medical technology. So we began by studying (AFP), then adding a few other tests and now the “AFP” test has become the “Quad Screen” blood test women get around 4 months of pregnancy as a birth defect screening test. There are new tests all the time. Maybe we can’t find a single fetal cell, but we can seem to detect fragments of DNA and RNA, mostly from the placenta and not tec...

Patients probably have to be proactive to get genetic testing for breast cancer risk unless you actually already have had a breast cancer diagnosed. Not many patients have had these tests. But those that should is well outlined in this technical article Robson ME, Storm CD, Weitzel J, et al. American Society of Clinical Oncology policy statement: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2010;28:893-891.